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Aliases for NAGPA Gene

Aliases for NAGPA Gene

  • N-Acetylglucosamine-1-Phosphodiester Alpha-N-Acetylglucosaminidase 2 3 5
  • Mannose 6-Phosphate-Uncovering Enzyme 3 4
  • Phosphodiester Alpha-GlcNAcase 3 4
  • Alpha-N-Acetylglucosaminyl Phosphodiesterase 3
  • Lysosomal Alpha-N-Acetylglucosaminidase 3
  • EC 3.1.4.45 4
  • APAA 3
  • UCE 3

External Ids for NAGPA Gene

Previous GeneCards Identifiers for NAGPA Gene

  • GC16M005107
  • GC16M005075

Summaries for NAGPA Gene

Entrez Gene Summary for NAGPA Gene

  • Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]

GeneCards Summary for NAGPA Gene

NAGPA (N-Acetylglucosamine-1-Phosphodiester Alpha-N-Acetylglucosaminidase) is a Protein Coding gene. Diseases associated with NAGPA include Stuttering and Articulation Disorder. Among its related pathways are Lysosome. GO annotations related to this gene include N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity.

UniProtKB/Swiss-Prot for NAGPA Gene

  • Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases.

Gene Wiki entry for NAGPA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAGPA Gene

Genomics for NAGPA Gene

Regulatory Elements for NAGPA Gene

Enhancers for NAGPA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G005032 1.6 Ensembl ENCODE dbSUPER 10 -0.9 -908 5.0 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ZNF500 C16orf89 PPL NAGPA
GH16G005027 0.5 dbSUPER 12.7 +6.1 6074 3.0 ZFHX2 PRDM10 HNRNPL RBFOX2 EGR2 NAGPA C16orf89 UBN1 GLYR1 SEC14L5 GC16M005030 NAGPA-AS1
GH16G005029 0.5 dbSUPER 8.2 +3.8 3804 1.3 HLF PRDM10 RBFOX2 C16orf89 UBN1 GLYR1 NAGPA GC16M005030 NAGPA-AS1
GH16G005010 0.7 dbSUPER 5.8 +22.6 22555 2.3 CTCF ZFP64 RAD21 ZNF48 ZNF143 NR2F6 IKZF2 CREM BHLHE40 NR2F1 SEC14L5 NAGPA NAGPA-AS1 GC16M005030
GH16G005020 0.6 dbSUPER 6.5 +13.8 13786 0.7 CTCF HLF CEBPB ZFHX2 SMARCA4 POLR2A ZNF341 CREB1 EGR2 C16orf89 NAGPA NAGPA-AS1 GC16M005030
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NAGPA on UCSC Golden Path with GeneCards custom track

Promoters for NAGPA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082894 341 1201 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766

Genomic Location for NAGPA Gene

Chromosome:
16
Start:
5,024,844 bp from pter
End:
5,034,141 bp from pter
Size:
9,298 bases
Orientation:
Minus strand

Genomic View for NAGPA Gene

Genes around NAGPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAGPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAGPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAGPA Gene

Proteins for NAGPA Gene

  • Protein details for NAGPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UK23-NAGPA_HUMAN
    Recommended name:
    N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
    Protein Accession:
    Q9UK23
    Secondary Accessions:
    • B2RAS1
    • Q96EJ8

    Protein attributes for NAGPA Gene

    Size:
    515 amino acids
    Molecular mass:
    56073 Da
    Quaternary structure:
    • Homotetramer arranged as two disulfide-linked homodimers. Interacts with AP4M1.

    Alternative splice isoforms for NAGPA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NAGPA Gene

Post-translational modifications for NAGPA Gene

  • The precursor is cleaved and activated in the trans-Golgi network by a furin endopeptidase.
  • Glycosylation at Asn208, posLast=214214, Asn296, posLast=366366, Asn388, and posLast=420420
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NAGPA Gene

Domains & Families for NAGPA Gene

Protein Domains for NAGPA Gene

Suggested Antigen Peptide Sequences for NAGPA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UK23

UniProtKB/Swiss-Prot:

NAGPA_HUMAN :
  • The tyrosine-based internalization signal may be essential for its retrieval from the plasma membrane to the TGN.
Domain:
  • The tyrosine-based internalization signal may be essential for its retrieval from the plasma membrane to the TGN.
  • The C-terminal NPFKD sequence is an attractive candidate for either an endocytosis signal acting at the plasma membrane or a retrieval signal acting at the TGN to return the enzyme to the cis/medial-Golgi.
genes like me logo Genes that share domains with NAGPA: view

No data available for Gene Families for NAGPA Gene

Function for NAGPA Gene

Molecular function for NAGPA Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Glycoprotein N-acetyl-D-glucosaminyl-phospho-D-mannose + H(2)O = N-acetyl-D-glucosamine + glycoprotein phospho-D-mannose.
UniProtKB/Swiss-Prot Function:
Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases.

Enzyme Numbers (IUBMB) for NAGPA Gene

Gene Ontology (GO) - Molecular Function for NAGPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003944 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity IEA --
GO:0005515 protein binding IPI 26544806
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with NAGPA: view
genes like me logo Genes that share phenotypes with NAGPA: view

Animal Models for NAGPA Gene

MGI Knock Outs for NAGPA:

Animal Model Products

  • Taconic Biosciences Mouse Models for NAGPA

CRISPR Products

miRNA for NAGPA Gene

miRTarBase miRNAs that target NAGPA

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NAGPA Gene

Localization for NAGPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAGPA Gene

Golgi apparatus, Golgi stack membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network. Note=Cis/medial Golgi.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAGPA gene
Compartment Confidence
golgi apparatus 4
plasma membrane 2
extracellular 2
lysosome 2
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for NAGPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with NAGPA: view

Pathways & Interactions for NAGPA Gene

SuperPathways for NAGPA Gene

SuperPathway Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with NAGPA: view

Pathways by source for NAGPA Gene

1 KEGG pathway for NAGPA Gene

UniProtKB/Swiss-Prot Q9UK23-NAGPA_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for NAGPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 10551838
GO:0006464 cellular protein modification process TAS 10551838
GO:0006486 protein glycosylation IEA --
GO:0006622 protein targeting to lysosome TAS 10551838
GO:0007040 lysosome organization TAS 10551838
genes like me logo Genes that share ontologies with NAGPA: view

No data available for SIGNOR curated interactions for NAGPA Gene

Drugs & Compounds for NAGPA Gene

(2) Drugs for NAGPA Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved Nutra Target 0
Water Approved Pharma 0

(5) Additional Compounds for NAGPA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NAGPA: view

Transcripts for NAGPA Gene

Unigene Clusters for NAGPA Gene

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NAGPA Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c · 11d ^ 12 ^ 13a · 13b ·
SP1: - -
SP2: - - - -
SP3:
SP4: - - - - - - - - - - - - -
SP5: - - - - -
SP6: - - -
SP7: - - - - - - - - - -
SP8: - - - - - -
SP9: -
SP10: - -
SP11:
SP12: - - - - - - - -
SP13: - - -

ExUns: 13c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for NAGPA Gene

GeneLoc Exon Structure for
NAGPA
ECgene alternative splicing isoforms for
NAGPA

Expression for NAGPA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NAGPA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NAGPA Gene

This gene is overexpressed in Monocytes (60.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NAGPA Gene



NURSA nuclear receptor signaling pathways regulating expression of NAGPA Gene:

NAGPA

SOURCE GeneReport for Unigene cluster for NAGPA Gene:

Hs.21334

mRNA Expression by UniProt/SwissProt for NAGPA Gene:

Q9UK23-NAGPA_HUMAN
Tissue specificity: Isoform 2 may be brain-specific.

Evidence on tissue expression from TISSUES for NAGPA Gene

  • Intestine(4.2)
  • Nervous system(3.2)
genes like me logo Genes that share expression patterns with NAGPA: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NAGPA Gene

Orthologs for NAGPA Gene

This gene was present in the common ancestor of chordates.

Orthologs for NAGPA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAGPA 34 35
  • 99.35 (n)
dog
(Canis familiaris)
Mammalia NAGPA 34 35
  • 86.45 (n)
cow
(Bos Taurus)
Mammalia NAGPA 34 35
  • 85.44 (n)
mouse
(Mus musculus)
Mammalia Nagpa 34 16 35
  • 82.14 (n)
rat
(Rattus norvegicus)
Mammalia Nagpa 34
  • 81.55 (n)
oppossum
(Monodelphis domestica)
Mammalia NAGPA 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 53 (a)
OneToMany
-- 35
  • 48 (a)
OneToMany
chicken
(Gallus gallus)
Aves NAGPA 34 35
  • 64.27 (n)
lizard
(Anolis carolinensis)
Reptilia NAGPA 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nagpa 34
  • 56.04 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:165534 34
  • 60.26 (n)
NAGPA 35
  • 44 (a)
OneToOne
Species where no ortholog for NAGPA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NAGPA Gene

ENSEMBL:
Gene Tree for NAGPA (if available)
TreeFam:
Gene Tree for NAGPA (if available)

Paralogs for NAGPA Gene

No data available for Paralogs for NAGPA Gene

Variants for NAGPA Gene

Sequence variations from dbSNP and Humsavar for NAGPA Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs71402581 Likely benign 5,027,395(+) GAGAT(-/GGGAGGA)GGGAG intron-variant
rs139526942 Uncertain significance 5,028,124(+) GCAGC(A/G)GGGTT nc-transcript-variant, reference, missense
rs755458782 Uncertain significance 5,033,563(+) CTGAA(C/G)TGCGA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs1995278 Benign 5,028,840(-) AGTCC(A/C/G)GGTCT intron-variant
rs2102065 Benign 5,030,522(-) GGGGC(A/G)GTGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NAGPA Gene

Variant ID Type Subtype PubMed ID
esv2422516 CNV deletion 17116639
esv25186 CNV gain 19812545
esv2760069 CNV gain+loss 17122850
esv34300 CNV gain 17911159
esv3637713 CNV gain 21293372
esv3637714 CNV gain 21293372
esv3892762 CNV gain 25118596
nsv1038475 CNV gain 25217958
nsv1039432 CNV loss 25217958
nsv1042612 CNV loss 25217958
nsv1046986 CNV gain 25217958
nsv1722 CNV deletion 18451855
nsv428318 CNV gain 18775914
nsv457360 CNV loss 19166990
nsv571303 CNV loss 21841781
nsv817715 CNV gain 17921354

Variation tolerance for NAGPA Gene

Residual Variation Intolerance Score: 45.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.45; 54.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NAGPA Gene

Human Gene Mutation Database (HGMD)
NAGPA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAGPA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAGPA Gene

Disorders for NAGPA Gene

MalaCards: The human disease database

(7) MalaCards diseases for NAGPA Gene - From: GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
stuttering
  • familial persistent stuttering
articulation disorder
  • articulation impairment
mucopolysaccharidosis type iiib
  • mucopolysaccharidosis, type iiib
speech disorder
  • speech disorders
microvascular complications of diabetes 7
  • diabetic nephropathy
- elite association - COSMIC cancer census association via MalaCards
Search NAGPA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NAGPA_HUMAN
  • Note=Defects in NAGPA have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech. {ECO:0000269 PubMed:20147709}.

Relevant External Links for NAGPA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAGPA
genes like me logo Genes that share disorders with NAGPA: view

No data available for Genatlas for NAGPA Gene

Publications for NAGPA Gene

  1. Human mannose 6-phosphate-uncovering enzyme is synthesized as a proenzyme that is activated by the endoprotease furin. (PMID: 12058031) Do H. … Kornfeld S. (J. Biol. Chem. 2002) 2 3 4 22 64
  2. Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N- acetylglucosaminidase. (PMID: 10551838) Kornfeld R.H. … Canfield W.M. (J. Biol. Chem. 1999) 2 3 4 22 64
  3. Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. (PMID: 20147709) Kang C. … Drayna D. (N. Engl. J. Med. 2010) 3 4 22 64
  4. Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. (PMID: 26544806) Raza M.H. … Drayna D. (Am. J. Hum. Genet. 2015) 3 4 64
  5. Structure and function of the DUF2233 domain in bacteria and in the human mannose 6-phosphate uncovering enzyme. (PMID: 23572527) Das D. … Wilson I.A. (J. Biol. Chem. 2013) 3 4 64

Products for NAGPA Gene

Sources for NAGPA Gene

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